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Grarup, N.* ; Moltke, I.* ; Andersen, M.K.* ; Dalby, M.* ; Vitting-Seerup, K.* ; Kern, T.* ; Mahendran, Y.* ; Jørsboe, E.* ; Larsen, C.V.L.* ; Dahl-Petersen, I.K.* ; Gilly, A.* ; Suveges, D.* ; Dedoussis, G.* ; Zeggini, E. ; Pedersen, O.* ; Andersson, R.* ; Bjerregaard, P.* ; Jørgensen, M.E.* ; Albrechtsen, A.* ; Hansen, T.*

Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes.

Nat. Genet. 50, 172-174 (2018)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
We have identified a variant in ADCY3 (encoding adenylate cyclase 3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice acceptor site, and carriers have decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among individuals with type 2 diabetes in trans-ancestry cohorts. These findings provide new information on disease etiology relevant for future treatment strategies.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 50, Issue: 2, Pages: 172-174 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Translational Genomics (ITG)